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[Molecular study of an individual with Bel subtype due to a novel c.620T>C variant].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2024

Liu Xin, Jin Huifang, Wang Shuya, Xie Ying, Liu Xue, ChenLi Yinghui, Kong Yongkui

Abstract excerpt

OBJECTIVE: To explore the molecular basis for an individual with Bel subtype of the ABO blood type due to a novel c.620T>C variant gene, and assess its impact on the structure of GTB transferase. METHODS: An individual who had visited the First Affiliated Hospital of Zhengzhou University on February 11, 2023 was selected as the study subject. ABO phenotyping was initially conducted with serological methods, which...

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PMID: 38565505
DOI: 10.3760/cma.j.cn511374-20230409-00192

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